Variant report

Variant	rs12298823
Chromosome Location	chr12:45799881-45799882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45611569..45613822-chr12:45799872..45802476,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11182985	1.00[EUR][1000 genomes]
rs11183020	0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183108	1.00[EUR][1000 genomes]
rs11183109	1.00[EUR][1000 genomes]
rs12298597	1.00[EUR][1000 genomes]
rs12299652	0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299715	1.00[EUR][1000 genomes]
rs12303119	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12312478	1.00[EUR][1000 genomes]
rs12313889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313957	1.00[EUR][1000 genomes]
rs12316100	1.00[EUR][1000 genomes]
rs12318053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4522236	1.00[EUR][1000 genomes]
rs59027429	1.00[EUR][1000 genomes]
rs6582560	1.00[EUR][1000 genomes]
rs7977711	1.00[EUR][1000 genomes]
rs9804810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804811	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:45752200-45803800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:45752200-45809200	Weak transcription	Small Intestine	intestine
4	chr12:45759000-45805200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:45759200-45822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:45764400-45802800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:45764400-45821000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:45764600-45815400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:45772600-45815400	Weak transcription	K562	blood
10	chr12:45773400-45803800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:45774800-45811400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:45778800-45803400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:45780400-45829800	Weak transcription	Brain Anterior Caudate	brain
14	chr12:45780800-45802000	Weak transcription	Right Ventricle	heart
15	chr12:45783200-45818800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:45783400-45826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:45786000-45800800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:45786200-45801000	Weak transcription	Psoas Muscle	Psoas
19	chr12:45786200-45801200	Weak transcription	Spleen	Spleen
20	chr12:45786200-45805400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:45786200-45806200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:45786200-45809200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:45786400-45806200	Weak transcription	Esophagus	oesophagus
24	chr12:45786600-45803600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:45786600-45803800	Weak transcription	Gastric	stomach
26	chr12:45786600-45806000	Weak transcription	Ovary	ovary
27	chr12:45786600-45827000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:45792000-45828600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:45792200-45802000	Strong transcription	Adipose Nuclei	Adipose
30	chr12:45792600-45800200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:45792600-45822600	Weak transcription	Colonic Mucosa	Colon
32	chr12:45792600-45827000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:45792800-45811800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:45793000-45803200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:45793000-45827600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:45794000-45801000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:45794200-45807400	Strong transcription	A549	lung
38	chr12:45794200-45823200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:45794400-45800000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:45794400-45807400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:45794600-45803000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:45794600-45804400	Strong transcription	HMEC	breast
43	chr12:45794600-45806800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:45794600-45809200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:45794600-45812200	Weak transcription	Fetal Brain Male	brain
46	chr12:45794800-45807600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr12:45795000-45801400	Weak transcription	Pancreas	Pancrea
48	chr12:45795000-45802800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:45795000-45812200	Weak transcription	Fetal Brain Female	brain
50	chr12:45795200-45803000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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